ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.489+9A>G (rs187936450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711515 SCV000841892 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000194378 SCV000524068 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000194378 SCV000247239 likely benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Invitae RCV000560289 SCV000660400 benign Mental retardation, autosomal dominant 7 2017-12-29 criteria provided, single submitter clinical testing

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